A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5415



Internal ID15550222
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:103263583..103334965hg38UCSC Ensembl
Outerchr6:103711458..103782840hg19UCSC Ensembl
Outerchr6:103818151..103889533hg18UCSC Ensembl
Outerchr6:103818151..103889533hg17UCSC Ensembl
Cytoband6q16.3
Allele length
AssemblyAllele length
hg3871383
hg1971383
hg1871383
hg1771383
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv11132, nssv6081, nssv3462, nssv2606
SamplesNA12156, NA12878, NA15510, NA18555
Known Genes
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nsv5415
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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